Variant report

Variant	esv3386666
Chromosome Location	chr1:214769379-214771477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214769122..214772968-chr1:214776078..214778762,4	K562	blood:
2	chr1:214761282..214762930-chr1:214767209..214769515,2	K562	blood:

Variant related genes	Relation type
ENSG00000117724	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376683011	chr1:214769382-214769383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34073272	chr1:214769402-214769403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186635937	chr1:214769414-214769415	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547424378	chr1:214769425-214769426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111804899	chr1:214769434-214769435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374273976	chr1:214769449-214769450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572922390	chr1:214769479-214769480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531668115	chr1:214769484-214769485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536246544	chr1:214769501-214769502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146269997	chr1:214769509-214769510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544789133	chr1:214769514-214769515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561509659	chr1:214769518-214769519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530378724	chr1:214769533-214769534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547323158	chr1:214769539-214769540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182390250	chr1:214769544-214769545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528072001	chr1:214769547-214769548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113568797	chr1:214769556-214769557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201528720	chr1:214769557-214769558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370919052	chr1:214769567-214769568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551116300	chr1:214769619-214769620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12126024	chr1:214769701-214769702	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536783918	chr1:214769706-214769707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550319607	chr1:214769715-214769716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567126715	chr1:214769732-214769733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539281938	chr1:214769752-214769753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558993511	chr1:214769817-214769818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572551569	chr1:214769836-214769837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536112256	chr1:214769894-214769895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79920931	chr1:214769906-214769907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566465846	chr1:214769955-214769956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75933630	chr1:214769965-214769966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113532391	chr1:214770009-214770010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572535314	chr1:214770010-214770011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74559618	chr1:214770018-214770019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369355515	chr1:214770019-214770020	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187831913	chr1:214770036-214770037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544391777	chr1:214770048-214770049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555156925	chr1:214770076-214770077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540896137	chr1:214770082-214770083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs367613019	chr1:214770087-214770088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142458844	chr1:214770093-214770094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113799533	chr1:214770094-214770095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376030187	chr1:214770103-214770104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12067115	chr1:214770118-214770119	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530579651	chr1:214770164-214770165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550282428	chr1:214770277-214770278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185159765	chr1:214770285-214770286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529824767	chr1:214770325-214770326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546418782	chr1:214770352-214770353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566755770	chr1:214770394-214770395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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